Pubmed du 22/12/25
1. Jiang Y, Tao Q, Wei Y, Shi S. Meta-analysis of aberrant white matter microstructure and gray matter volume in autism spectrum disorder. Psychiatry Res Neuroimaging. 2025; 356: 112110.
OBJECTIVE: Our aim was to conduct a comprehensive meta-analysis of structural neuroimaging studies investigating white matter (WM) microarchitecture and gray matter volume (GMV) abnormalities in patients with autism spectrum disorder (ASD). METHODS: Totally 24 diffusion tensor imaging studies using tract-based spatial statistics (TBSS) or voxel-based analysis (VBA) approach were included in this meta-analysis. The discrepancies in WM fractional anisotropy, mean diffusivity, axial diffusivity and radial diffusivity between ASD patients and typically developing (TD) individuals and the results of two common methods were compared. Besides, we detect GMV alternations by analyzing 44 voxel-based morphometry studies in ASD and comparing the difference in different developing stages. RESULTS: Compared with TD, ASD exhibited significantly WM microstructure alterations in corpus callosum, cortico-spinal projections, anterior thalamic projections, superior longitudinal fasciculus and middle cerebellar peduncles. There is some heterogeneity in aberrant WM microstructure between the TBSS and VBA subgroup. ASD had increased GMV in gyrus rectus, superior and inferior temporal gyrus, and precentral gyrus, and decreased GMV in cerebellum, anterior cingulate/paracingulate gyri, cingulum, and inferior parietal gyri. ASD displayed an age-related trajectory of brain morphometry. CONCLUSION: Our main findings reveal the variable WM microarchitecture and GMV in ASD and offer a neuroanatomical framework that may guide multimodal and longitudinal research.
Lien vers le texte intégral (Open Access ou abonnement)
2. Jiang Y, Wang T. Patterns of AAC use and communicative functions in minimally verbal autistic children following introduction of AAC tools and caregiver training: A corpus-based analysis. Res Dev Disabil. 2025; 168: 105188.
BACKGROUND: Research on Augmentative and Alternative Communication (AAC) for autistic children often focuses primarily on request-based skills. However, growing evidence highlights the importance of broader functional applications. METHODS: This study employed a corpus-based design to describe patterns of change following the introduction of caregiver-mediated, low-tech aided AAC tools and training aimed at increasing spontaneous communication and functional diversity in preschool and school-aged autistic children. The AAC training was integrated into home routines, where caregivers systematically prompted and reinforced AAC use. Caregiver-child interactions were recorded during three phases: the first, second, and final time points. RESULTS: Results showed that all participants moved from limitations at the first time point (AAC use was minimal or prompt-dependent) to varying levels of spontaneous AAC engagement. Their communication diversified beyond instrumental functions (basic requesting) to include interactional functions (joint attention initiation) and informative functions (environmental commentary). CONCLUSIONS: While increases were observed in communicative autonomy in natural settings, persistent gaps in regulatory and emotional functions suggested limitations in current AAC approaches, indicating a need for personalized strategies targeting higher-level communication skills.
Lien vers le texte intégral (Open Access ou abonnement)
3. Sertié AL, Josino R, Goll VR, Nunes Goussain Filippo AL, Campos GDS, do Rego F, Siqueira ES, Farias de Alcântara N, Zachi EC, Passos-Bueno MR. Catatonia and regression in an autism spectrum disorder patient harbouring a BRSK2 frameshift mutation. J Med Genet. 2025.
Deleterious variants in the BRSK2 gene, which encodes a serine/threonine kinase crucial for neuronal polarisation and brain development, have recently been linked to the pathogenesis of autism spectrum disorder (ASD). However, comprehensive clinical descriptions of individuals with pathogenic BRSK2 variants remain limited, and the molecular and cellular consequences of these mutations are poorly understood. This case report provides a detailed clinical, cognitive and molecular characterisation of a male patient with ASD harbouring a de novo BRSK2 frameshift variant, who developed catatonia, developmental regression and cognitive decline during early adolescence. To assess the functional impact of the variant, induced pluripotent stem cells (iPSCs) and iPSC-derived neural organoids were generated from the patient. Molecular analyses revealed a significant reduction in BRSK2 transcript and protein levels. Sequencing of BRSK2 mRNA showed exclusive expression from the wild-type allele, consistent with degradation of the mutant transcript via nonsense-mediated decay. These findings broaden the mutational and phenotypic spectrum associated with BRSK2-related neurodevelopmental disorders and provide functional evidence supporting the pathogenicity of the identified variant. Furthermore, this report demonstrates the role of BRSK2 in complex neuropsychiatric features-such as catatonia and cognitive deterioration, which remain underreported in the existing literature-and emphasises the importance of longitudinal cognitive and behavioural monitoring in individuals with BRSK2 mutations.
Lien vers le texte intégral (Open Access ou abonnement)
4. Wang X, Zeng C, Wu Z, Lu M, Wang X, Xiu Y, Wang Q, Wang S, Chen X, Shen Y, Li H, Su Y, Chen P, Chen H, Sheng N, Mo W, Yi C, Yang Q, Verkhratsky A, Niu J, Xiao L. Chromatin remodeling factor BAF155 coordinates oligodendroglial-neuronal communications linked to regional myelination and autism-like behavioral deficits in mice. Nat Commun. 2025.
Autism spectrum disorders (ASD) are neurodevelopmental disorders associated with synaptic deficits. Oligodendrocyte precursor cells (OPCs) are the only type of glial cells that establish direct synaptic connections with neurons within the central nervous system (CNS). However, the mechanism that results in the delicate construction of OPC-neuron synaptic connections remain poorly understood. Here we show in a mouse model that BAF155, a chromatin remodeling factor, is highly expressed in committed OPCs. BAF155 influences the OPC differentiation and myelination by coordinating the expression of multiple synapse-related genes that mediate OPC-neuron synaptic communication. The varying chromatin regulatory roles of BAF155 across brain regions give rise to local myelin deficits, contributing to the diverse clinical manifestations observed in individuals with ASD. Collectively, these results deepen our insight into OPC-neuron interactions under pathophysiological conditions and uncover a mechanism that integrates synaptic and ASD susceptibility genes, implying that abnormal OPC-neuron synaptogenesis could be an early instigator of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
5. Xin Y, Yang Y, Qian Q, Xia T, Zhang W, Dai T, Li R, Liu Z, Zhang C. A pilot study of the plasma and urinary neurotransmitters in Chinese children with autism spectrum disorder. BMC Psychiatry. 2025.
BACKGROUND: Recent studies have indicated that there are imbalances in neurotransmitter levels in children with autism spectrum disorder (ASD). Alterations in peripheral blood and urinary neurotransmitter levels may serve as biomarkers for ASD. METHODS: This study aims to explore the relationship between neurotransmitter levels and the severity of ASD. Totally, forty sex-, age-, and ethnically matched typically developing (TD) children were recruited to compare the neurotransmitter levels with ASD aged over 3 years. Differences in plasma and urinary neurotransmitter levels between TD children and children with ASD were compared using the Mann-Whitney U test. For the indicators that showed significant differences, further multivariate regression analysis was conducted to assess the association between individual neurotransmitters and Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) Calibrated Severity Score (CSS). Finally, a restricted cubic spline (RCS) model was applied to explore the dose-response relationship between neurotransmitter concentrations and ADOS-2 CSS. RESULTS: Plasma levels of dopamine (DA), normetanephrine (NMN), 5-hydroxytryptamine (5-HT), γ-aminobutyric acid (γ-GABA) levels in ASD were significantly higher than those in TD children while plasma levels of norepinephrine (NE), tyrosine (Tyr) were significantly lower. Urinary levels of NMN were significantly lower, while epinephrine (E), NE, vanillylmandelic acid (VMA), homovanillic acid (HVA) were significantly higher in children with ASD compared to TD. After adjusting for confounders of age, sex and BMI, plasma GABA was negatively associated with ADOS-2 CSS, while urinary NE and NMN were positively associated with ADOS severity scores (P ＜ 0.05). Multiple regression analysis indicated that plasma GABA and urinary NE and NMN levels explained 26.9%, 24.8% and 15.8% of the variability in ADOS-2 CSS for ASD. The RCS analysis results were largely consistent with the linear regression analysis results. Plasma GABA and urinary NE, and NMN exhibited a linear correlation with ADOS-2 CSS. Plasma NE and Tyr showed a U-shaped curve relationship with the ADOS-2 CSS (P< 0.05). CONCLUSIONS: A significant negative correlation was observed between plasma GABA neurotransmitter concentrations and ASD severity. In contrast, NE and NMN levels in urine showed significantly positive correlations with ASD severity. Both excessively low and excessively high plasma NE and Tyr levels may be associated with more severe autism symptoms, suggesting a disruption in peripheral neurotransmitter levels in children with ASD. Future studies with larger sample sizes are required for prediction and validation. The peripheral neurotransmitters may serve as potential auxiliary biomarkers for assessing the severity of autism.
